KCNQ2 c.602G>A ;(p.R201H)

Variant ID: 20-62076100-C-T

NM_172107.2(KCNQ2):c.602G>A;(p.R201H)

This variant was identified in 26 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: KCNQ2: 602G>A; Arg201His
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: KCNQ2: R201H
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: KCNQ2: 602G>A; R201H
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway.

Frontiers In Pediatrics
Stenshorne, Ida I; Syvertsen, Marte M; Ramm-Pettersen, Anette A; Henning, Susanne S; Weatherup, Elisabeth E; Bjørnstad, Alf A; Brüggemann, Natalia N; Spetalen, Torstein T; Selmer, Kaja K KK; Koht, Jeanette J
Publication Date: 2022

Variant appearance in text: KCNQ2: 602G>A
PubMed Link: 35979408
Variant Present in the following documents:
  • Main text
  • fped-10-965282.pdf
View BVdb publication page



Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine
Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N
Publication Date: 2022-04-26

Variant appearance in text: KCNQ2: 602G>A; Arg201His
PubMed Link: 35468861
Variant Present in the following documents:
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 8
View BVdb publication page



KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review.

Frontiers In Neurology
Amore, Greta G; Butera, Ambra A; Spoto, Giulia G; Valentini, Giulia G; Saia, Maria Concetta MC; Salpietro, Vincenzo V; Calì, Francesco F; Di Rosa, Gabriella G; Nicotera, Antonio Gennaro AG
Publication Date: 2022

Variant appearance in text: KCNQ2: 602G>A
PubMed Link: 35401395
Variant Present in the following documents:
  • Main text
  • fneur-13-826225.pdf
View BVdb publication page



High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity.

Jci Insight
Vanoye, Carlos G CG; Desai, Reshma R RR; Ji, Zhigang Z; Adusumilli, Sneha S; Jairam, Nirvani N; Ghabra, Nora N; Joshi, Nishtha N; Fitch, Eryn E; Helbig, Katherine L KL; McKnight, Dianalee D; Lindy, Amanda S AS; Zou, Fanggeng F; Helbig, Ingo I; Cooper, Edward C EC; George, Alfred L AL
Publication Date: 2022-03-08

Variant appearance in text: KCNQ2: R201H
PubMed Link: 35104249
Variant Present in the following documents:
  • jciinsight-7-156314-s076.xlsx, sheet 1
  • jciinsight-7-156314-s080.xlsx, sheet 1
  • jciinsight-7-156314-s075.pdf
  • jciinsight-7-156314-s077.xlsx, sheet 2
  • jciinsight-7-156314-s078.xlsx, sheet 2
  • jciinsight-7-156314-s080.xlsx, sheet 2
  • jciinsight-7-156314-s079.xlsx, sheet 1
  • jciinsight-7-156314-s079.xlsx, sheet 2
  • jciinsight-7-156314-s077.xlsx, sheet 1
  • jciinsight-7-156314-s080.xlsx, sheet 3
  • jciinsight-7-156314-s077.xlsx, sheet 3
  • jciinsight-7-156314-s078.xlsx, sheet 3
  • jciinsight-7-156314-s078.xlsx, sheet 1
View BVdb publication page



Early initial video-electro-encephalography combined with variant location predict prognosis of KCNQ2-related disorder.

Bmc Pediatrics
Xu, Yan Y; Dou, Ya-Lan YL; Chen, Xiang X; Dong, Xin-Ran XR; Wang, Xin-Hua XH; Wu, Bing-Bing BB; Cheng, Guo-Qiang GQ; Zhou, Yuan-Feng YF
Publication Date: 2021-10-28

Variant appearance in text: KCNQ2: R201H
PubMed Link: 34711204
Variant Present in the following documents:
  • Main text
  • 12887_2021_Article_2946.pdf
View BVdb publication page



Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: KCNQ2: 602G>A; R201H
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



De novo mutations in folate-related genes associated with common developmental disorders.

Computational And Structural Biotechnology Journal
Luo, Tengfei T; Li, Kuokuo K; Ling, Zhengbao Z; Zhao, Guihu G; Li, Bin B; Wang, Zheng Z; Wang, Xiaomeng X; Han, Ying Y; Xia, Lu L; Zhang, Yi Y; Zhou, Qiao Q; Fang, Zhenghuan Z; Wang, Yijing Y; Chen, Qian Q; Zhou, Xun X; Pan, Hongxu H; Zhao, Yuwen Y; Wang, Yige Y; Dong, Lijie L; Huang, Yuanfeng Y; Hu, Zhengmao Z; Pan, Qian Q; Xia, Kun K; Li, Jinchen J
Publication Date: 2021

Variant appearance in text: KCNQ2: 602G>A; R201H; rs1057516085
PubMed Link: 33777337
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants.

Neurology. Genetics
Malerba, Federica F; Alberini, Giulio G; Balagura, Ganna G; Marchese, Francesca F; Amadori, Elisabetta E; Riva, Antonella A; Vari, Maria Stella MS; Gennaro, Elena E; Madia, Francesca F; Salpietro, Vincenzo V; Angriman, Marco M; Giordano, Lucio L; Accorsi, Patrizia P; Trivisano, Marina M; Specchio, Nicola N; Russo, Angelo A; Gobbi, Giuseppe G; Raviglione, Federico F; Pisano, Tiziana T; Marini, Carla C; Mancardi, Maria M MM; Nobili, Lino L; Freri, Elena E; Castellotti, Barbara B; Capovilla, Giuseppe G; Coppola, Antonietta A; Verrotti, Alberto A; Martelli, Paola P; Miceli, Francesco F; Maragliano, Luca L; Benfenati, Fabio F; Cilio, Maria R MR; Johannesen, Kathrine M KM; Møller, Rikke S RS; Ceulemans, Berten B; Minetti, Carlo C; Weckhuysen, Sarah S; Zara, Federico F; Taglialatela, Maurizio M; Striano, Pasquale P
Publication Date: 2020-12

Variant appearance in text: KCNQ2: R201H
PubMed Link: 33659638
Variant Present in the following documents:
  • Main text
  • NG2020015198.pdf
View BVdb publication page



Intellectual Disability and Potassium Channelopathies: A Systematic Review.

Frontiers In Genetics
Kessi, Miriam M; Chen, Baiyu B; Peng, Jing J; Tang, Yulin Y; Olatoutou, Eleonore E; He, Fang F; Yang, Lifen L; Yin, Fei F
Publication Date: 2020

Variant appearance in text: Kv7.2: R201H
PubMed Link: 32655623
Variant Present in the following documents:
  • Main text
  • fgene-11-00614.pdf
View BVdb publication page



Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.

Scientific Reports
Zhang, Jiaren J; Kim, Eung Chang EC; Chen, Congcong C; Procko, Erik E; Pant, Shashank S; Lam, Kin K; Patel, Jaimin J; Choi, Rebecca R; Hong, Mary M; Joshi, Dhruv D; Bolton, Eric E; Tajkhorshid, Emad E; Chung, Hee Jung HJ
Publication Date: 2020-03-16

Variant appearance in text: Kv7.2: 602G>A
PubMed Link: 32179837
Variant Present in the following documents:
  • 41598_2020_61697_MOESM2_ESM.pdf
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: KCNQ2: R201H
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: KCNQ2: R201H
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open
Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S
Publication Date: 2019-09

Variant appearance in text: KCNQ2: 602G>A; Arg201His
PubMed Link: 31440721
Variant Present in the following documents:
  • EPI4-4-397-s003.xlsx, sheet 1
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: KCNQ2: R201H
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 24
View BVdb publication page



Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.

The Neuroscientist : A Review Journal Bringing Neurobiology, Neurology And Psychiatry
Niday, Zachary Z; Tzingounis, Anastasios V AV
Publication Date: 2018-08

Variant appearance in text: KCNQ2: R201H
PubMed Link: 29542386
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.

Plos One
Ortega-Moreno, Laura L; Giráldez, Beatriz G BG; Soto-Insuga, Victor V; Losada-Del Pozo, Rebeca R; Rodrigo-Moreno, María M; Alarcón-Morcillo, Cristina C; Sánchez-Martín, Gema G; Díaz-Gómez, Esther E; Guerrero-López, Rosa R; Serratosa, José M JM; ,
Publication Date: 2017

Variant appearance in text: KCNQ2: 602G>A; Arg201His
PubMed Link: 29190809
Variant Present in the following documents:
  • Main text
  • pone.0188978.pdf
View BVdb publication page



Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.

Nature Communications
Reijnders, M R F MRF; Kousi, M M; van Woerden, G M GM; Klein, M M; Bralten, J J; Mancini, G M S GMS; van Essen, T T; Proietti-Onori, M M; Smeets, E E J EEJ; van Gastel, M M; Stegmann, A P A APA; Stevens, S J C SJC; Lelieveld, S H SH; Gilissen, C C; Pfundt, R R; Tan, P L PL; Kleefstra, T T; Franke, B B; Elgersma, Y Y; Katsanis, N N; Brunner, H G HG
Publication Date: 2017-10-20

Variant appearance in text: KCNQ2: 602G>A; R201H
PubMed Link: 29051493
Variant Present in the following documents:
  • 41467_2017_933_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research
Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S
Publication Date: 2017-10

Variant appearance in text: KCNQ2: 602G>A; Arg201His
PubMed Link: 28864458
Variant Present in the following documents:
  • supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1
View BVdb publication page



Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin
Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP
Publication Date: 2017-08

Variant appearance in text: KCNQ2: R201H
PubMed Link: 28488083
Variant Present in the following documents:
  • Main text
View BVdb publication page



Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

Epilepsia
Mulkey, Sarah B SB; Ben-Zeev, Bruria B; Nicolai, Joost J; Carroll, John L JL; Grønborg, Sabine S; Jiang, Yong-Hui YH; Joshi, Nishtha N; Kelly, Megan M; Koolen, David A DA; Mikati, Mohamad A MA; Park, Kristen K; Pearl, Phillip L PL; Scheffer, Ingrid E IE; Spillmann, Rebecca C RC; Taglialatela, Maurizio M; Vieker, Silvia S; Weckhuysen, Sarah S; Cooper, Edward C EC; Cilio, Maria Roberta MR
Publication Date: 2017-03

Variant appearance in text: KCNQ2: 602G>A; R201H
PubMed Link: 28139826
Variant Present in the following documents:
  • Main text
View BVdb publication page



Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant.

Epilepsia
Millichap, John J JJ; Miceli, Francesco F; De Maria, Michela M; Keator, Cynthia C; Joshi, Nishtha N; Tran, Baouyen B; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; Shashi, Vandana V; Mikati, Mohamad A MA; Cooper, Edward C EC; Taglialatela, Maurizio M
Publication Date: 2017-01

Variant appearance in text: KCNQ2: R201H
PubMed Link: 27861786
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels.

Frontiers In Cellular Neuroscience
Miceli, Francesco F; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; De Maria, Michela M; Manocchio, Laura L; Medoro, Alessandro A; Taglialatela, Maurizio M
Publication Date: 2015

Variant appearance in text: KCNQ2: R201H
PubMed Link: 26236192
Variant Present in the following documents:
  • Main text
  • fncel-09-00259.pdf
View BVdb publication page



Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Miceli, Francesco F; Soldovieri, Maria Virginia MV; Ambrosino, Paolo P; De Maria, Michela M; Migliore, Michele M; Migliore, Rosanna R; Taglialatela, Maurizio M
Publication Date: 2015-03-04

Variant appearance in text: Kv7.2: R201H
PubMed Link: 25740509
Variant Present in the following documents:
  • Main text
View BVdb publication page